List of variants reported as pathogenic by Precision Medical Center, Wuhan Children's Hospital

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 9q34.3(chr9:139315643-139465759)x1
NM_003482.4(KMT2D):c.10394del (p.Gly3465fs)	rs1284500089
NM_014991.6(WDFY3):c.349_350del (p.Gln116_Ser117insTer)	rs2150029460
NM_032415.7(CARD11):c.1030_1032del (p.Lys344del)	rs2115070994
NM_032415.7(CARD11):c.377G>A (p.Gly126Asp)	rs1423056320

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